Understanding and treating a genetic condition that affects movement in children
Official title: Development of a Translational Research Platform to Understand and treat Defective Protein Trafficking in Childhood-Onset Hereditary Spastic Paraplegia
Funded at Boston Children's Hospital · NIH-11083563 · Data updated 2026-11-12
This study is looking at how certain genes affect movement problems in children with hereditary spastic paraplegia and is testing new treatments that might help improve their nerve function and overall health.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | July 1, 2021 |
| Project end | April 30, 2026 |
| Funding year | 2025 |
| Award (this year) | $231,255 |
| NIH project number | 5K08NS123552-05 |
| Project ID | NIH-11083563 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with hereditary spastic paraplegia, particularly those with specific genetic mutations affecting protein trafficking.
✕Less likely to help
Patients with hereditary spastic paraplegia caused by genetic mutations not related to the adaptor protein complex 4 may not benefit from this research.
What this research studies
This research focuses on hereditary spastic paraplegia (HSP), a group of neurodegenerative conditions that primarily affect children and lead to progressive movement difficulties. The study aims to investigate the role of specific genes involved in protein trafficking that are crucial for nerve function. By developing neuronal models and testing new compounds, the research seeks to identify potential therapies that could restore normal protein function and improve outcomes for affected children. The approach includes screening small molecules that can enhance the distribution of a key protein involved in nerve health.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that halt or reverse the progression of movement disabilities in children with hereditary spastic paraplegia.
How similar studies have gone: While research into hereditary spastic paraplegia is ongoing, this specific approach targeting protein trafficking is relatively novel and has not been extensively tested in clinical settings.
Where this research is happening
-
Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Ebrahimi-Fakhari, Darius — Boston Children's Hospital
- Study coordinator: Ebrahimi-Fakhari, Darius
Related research
Other NIH-funded projects on the same topics.
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Understanding axon degeneration in hereditary spastic paraplegia and ALS using patient-derived neurons
Aimed at understanding why certain nerve fibers die in hereditary spastic paraplegia and ALS by studying neurons made from patients’ own stem cells.
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Combinatorial Therapy for SPG4 hereditary spastic paraplegia
Aims to test gene-based treatments to help people with SPG4-related hereditary spastic paraplegia manage mobility and related symptoms.
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Understanding how full-length spastin works and its role in hereditary spastic paraplegia
This grant aims to uncover how the spastin protein uses ATP to cut and regrow microtubules, shedding light on the most common inherited cause of a neurodegenerative leg-weakness disorder.
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Finding hidden genetic causes of hereditary spastic paraplegia
Using whole genome sequencing to find genetic causes for people with hereditary spastic paraplegia whose earlier genetic tests came up inconclusive.
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A new antibody-based therapy for SPG4 hereditary spastic paraplegia
A small NIH grant is funding a therapy aimed at reducing mutant M1 spastin protein to help people with SPG4-HSP, a gradual leg-weakening neurodegenerative condition.
-
Understanding nerve damage in hereditary spastic paraplegia
Researchers are using genetically modified rats and patient-derived stem cells to learn how gene mutations cause nerve fiber damage in people with hereditary spastic paraplegia.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.